1. Panels
  2. Fetal anomalies
  3. FGF8
Genes in panel
Prev Next

Fetal anomalies

Gene: FGF8

Green List (high evidence)
FGF8 (fibroblast growth factor 8)
EnsemblGeneIds (GRCh38): ENSG00000107831
EnsemblGeneIds (GRCh37): ENSG00000107831
OMIM: 600483, Gene2Phenotype
FGF8 is in 8 panels

2 reviews

Zornitza Stark (Australian Genomics)

I don't know

Agree with overall Green rating for this gene on this panel.

Note new gene-disease association which is also relevant to this panel but is caused by a CNV:

PMID: 34433009 - two unrelated families with de novo heterozygous tandem duplications (494kb) including the FGF8 gene (encompasses multiple genes). Functional studies of the duplications in patient cells and mice (CRISPR-Cas9 editing) showed ectopic chromatin contacts and increased FGF8 expression. The transgenic mice exhibited proximal shortening of the limbs resembling the human phenotype.
Created: 13 Sep 2021, 7:58 a.m. | Last Modified: 13 Sep 2021, 7:58 a.m.
Panel Version: 1.712

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Femoral hypoplasia

Publications

Created: 13 Sep 2021, 7:58 a.m.
Last Modified: 13 Sep 2021, 7:58 a.m.
Panel version: 1.712

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Structural features from birth. PMID:20463092 report 2 families; 1 affected indiv also had cleft lip and palate. PMID:24280688 report a singleton with micropenis, cleft lip and palate, craniofacial anomalies and ventricular septal defect (VSD) at birth. PMID:18596921 report 6 families with missense variants; one also had variant in FGFR1; in one family 2 sibs had cleft lip/palate but reduced penetrance. Overall include on Fetal panel based on cleft lip/palate phenotype.
Created: 29 Apr 2019, 12:28 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include- the pituitary would present as structurally abnormal.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as Uncertain.
Created: 8 Nov 2018, 4:45 p.m.

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.222

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia 612702
OMIM
600483
Clinvar variants
Variants in FGF8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene FGF8 were changed from to 18596921; 20463092; 24280688

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FGF8 was added gene: FGF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia 612702